Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 21 dezembro 2024
JCM, Free Full-Text
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Genes, Free Full-Text
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Genes, Free Full-Text
Genetic aspects in the medical approach of congenital heart defects
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome, Genome Medicine
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
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